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Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome (MONDO:0011402)

Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

Overview

Category

Ontology ID

Internal:12507

Synonyms

CCFDN

congenital cataracts-facial dysmorphism-neuropathy syndrome

cataract, congenital, with Facial Dysmorphism and neuropathy

congenital cataracts, facial dysmorphism, and neuropathy

Mapped terms

GARD:0016645

ICD9:759.89

MEDGEN:346973

MESH:C565822

OMIM:604168

Orphanet:48431

SCTID:702433001

UMLS:C1858726

Child terms

Unknown children.